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Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates

Several homologous recombination “hotspots,” or sites of positional preference for strand exchanges, associated with recurrent deletions and duplications have been reported within large low-copy repeats (LCRs). Recently, such a hotspot was identified in patients with the Smith-Magenis syndrome (SMS)...

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Detalhes bibliográficos
Main Authors: Shaw, Christine J., Withers, Marjorie A., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2004
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182010/
https://ncbi.nlm.nih.gov/pubmed/15148657
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